Hodgkinson Lab

Publications

2026 Centanini, E., Pain, O., Chinnery, P.F. & Hodgkinson, A. Nuclear genetic modulation of tissue-specific mitochondrial RNA processing contributes to common disease risk. Nature Communications 17: 5899. DOI ↗
2025 Van De Streek, M., Ali, A., El-Sayed Moustafa, J., Glastonbury, C., Spector, T., Valdes, A., Staff, J., Morton, J., Hodgkinson, A., Bell, J. & Small, K. Quantification of heavy metal exposure in a British population cohort links total mercury levels in plasma with skin tissue-specific changes in mitochondrial-related gene expression. Science of the Total Environment 963: 178427.
2023 Fairbrother-Browne, A., Garcia-Ruiz, S., Reynolds, R., Ryten, M. and Hodgkinson, A. ensemblQueryR: fast, flexible and high-throughput querying of Ensembl LD API endpoints in R. Gigabyte. DOI ↗
2022 Antona, G-C, Ali, A.T., Hodgkinson, A. Identification of human mitochondrial RNA cleavage sites and candidate RNA processing factors. BMC Biology 20: 168.
2022 Saukkonen, A., Kilpinen, H., & Hodgkinson, A. Highly accurate quantification of allelic gene expression for population and disease genetics. Genome Research. gr.276296.121.
2022 Rodriguez-Algarra, F. et al (including Hodgkinson, A.). Genetic variation at mouse and human ribosomal DNA influences associated epigenetic states. Genome Biology 23: 1-17.
2021 Fairbrother-Browne, A., Ali, A., Reynolds, R., Garcia-Ruiz, S., Zhang, D., Chen, Z., Ryten, M. and Hodgkinson, A. Mitochondrial-nuclear cross-talk in the human brain is modulated by cell type and perturbed in neurodegenerative disease. Communications Biology 4: 1262.
2020 Wilson B.C., Boehme L., Annibali A., Hodgkinson A., Carroll T.S., Oakey R.J., Seitan V.C. Intellectual disability-associated factor Zbtb11 cooperates with NRF-2/GABP to control mitochondrial function. Nature Communications 11: 5469.
2020 Ali, A.T., Idaghdour, Y, Hodgkinson, A. Analysis of mitochondrial m1A/G RNA modification reveals links to nuclear genetic variants and associated disease processes. Communications Biology 3: 147.
2019 Ali, A.T., Boehme, L., Antona, G-C, Seitan, V.C., Small, K.S., Hodgkinson, A. Nuclear Genetic Regulation of the Human Mitochondrial Transcriptome. eLife 8: e41927.
2018 Favé, M.-J. et al (including Hodgkinson, A.). Gene-by-environment interactions in urban populations modulate risk phenotypes. Nature Communications 9: 827.
2018 Peischl, S. et al (including Hodgkinson, A.). Relaxed Selection During a Recent Human Expansion. Genetics 2018: 763-777.
2017 Idaghdour, Y, and Hodgkinson, A. Integrated genomic analysis of mitochondrial RNA processing in human cancers. Genome Medicine 9: 36. PDF ↗
2016 Hodgkinson, A. et al. A haplotype-based normalization technique for the analysis and detection of allele specific expression. BMC Bioinformatics 17: 364.
2016 Merner et al (including Hodgkinson, A.). Gain-of-function missense variant in SLC12A2, encoding the bumetanide-sensitive NKCC1 cotransporter, identified in human schizophrenia. Journal of Psychiatric Research 77: 22-26.
2016 Leblond, C. et al (including Hodgkinson, A.). Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis. Neurobiology of Aging 37: 209.
2015 The 1000 Genomes Project Consortium (including Hodgkinson, A.). A global reference for human genetic variation. Nature 526: 68-74.
2015 Hussin, J.G., Hodgkinson, A. et al. Recombination affects accumulation of damaging and disease-associated mutations in human populations. Nature Genetics 47(4): 400-4.
2014 Hodgkinson, A.*, Idaghdour, Y.*, Gbeha, E., Grenier, J.C., Hip-Ki, E., Bruat, V., Goulet, J.P., de Malliard, T. and Awadalla, P. High-Resolution Genomic Analysis of Human Mitochondrial RNA Sequence Variation. Science 344: 413-415.
2014 Kahle et al. (including Hodgkinson, A.). Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy. EMBO Rep 15: 766-74.
2013 Casals, F.*, Hodgkinson, A.*, et al. Whole-exome sequencing reveals a rapid change in the frequency of rare functional variants in a founding population of humans. PLoS Genetics 9: e1003815.
2013 Hodgkinson, A., Casals, F., Idaghdour, Y., Grenier, J.C., Hernandez, R. and Awadalla, P. Selective constraint, background selection, and mutation accumulation variability within and between human populations. BMC Genomics 14: 495-504.
2013 Samuels, M.A. et al (including Hodgkinson, A.). Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia. J Med Genet 50: 324-329.
2012 Abecasis, G.R. et al (including Hodgkinson, A.). An integrated map of genetic variation from 1,092 human genomes. Nature 491: 56-65.
2011 Hodgkinson, A., and A. Eyre-Walker. Variation in the Mutation Rate Across Mammalian Genomes. Nature Reviews Genetics 12: 756-766.
2011 Hodgkinson, A., and A. Eyre-Walker. The Large-Scale Distribution of Somatic Mutations in Cancer Genomes. Human Mutation 33: 136-143.
2010 Hodgkinson, A., and A. Eyre-Walker. The Genomic Distribution and Local Context of Coincident SNPs in Human and Chimpanzee. Genome Biology and Evolution 2: 547-557. PDF ↗
2010 Hodgkinson, A., and A. Eyre-Walker. Human triallelic sites: evidence for a new mutational mechanism? Genetics 184: 233-241. PDF ↗
2009 Hodgkinson, A., E. Ladoukakis, and A. Eyre Walker. Cryptic Variation in the Human Mutation Rate. PLoS Biology 7: 226-232. PDF ↗
2006 Eleftherianos, I., Marokhazi, J., Millichap, P., Hodgkinson, A., Sriboonlert, A., Ffrench-Constant, R., Reynolds, S. Prior infection of Manduca sexta with non-pathogenic Escherichia coli elicits immunity to pathogenic Photorhabdus luminescens: Roles of immune-related proteins shown by RNA interference. Insect Biochem Mol Biol 36: 517-525.